Fryns syndrome in monozygotic twins: a case report with review of literature / Síndrome Fryns en gemelos monocigóticos – reporte de caso con revisión de la literatura

Fryns syndrome is a rare multiple congenital anomaly syndrome. The syndrome is characterized by congenital diaphragmatic hernia, unusual facial features and distal limb abnormalities. Here we report a case of monozygotic twins with Fryns syndrome of consanguine parents with normal first child. The mother with 20 weeks of gestation having hyperemesis was referred from a primary health centre to the department of obstetrics and gynaecology at our hospital with polyhydramnios detected in ultrasonogram. Detailed ultrasound was done and after finding that both babies having multiple congenital anomalies, emergency caeserian section was done. The malformations in the twins suggestive of Fryns syndrome.

El síndrome de Fryns, es un raro síndrome de múltiples anomalías congénitas. El síndrome se caracteriza por la hernia diafragmática congénita, rasgos faciales inusuales y alteraciones distales del miembro. Se presenta un caso de gemelos monocigóticos con síndrome de Fryns de padres consanguíneos con un primer hijo normal. La madre con 20 semanas de gestación e hiperemesis fue remitida desde un centro de salud primario al departamento de obstetricia y ginecología de nuestro hospital con polihidramnios detectado en ecografía. En una ecografía detallada se evidenció que los dos bebés tenían múltiples anomalías congénitas, por lo que se realizó una cesárea de emergencia. Las malformaciones en los gemelos sugieren un síndrome de Fryns.

Síndrome de Frey simulando eritema malar por alergia alimentar / Frey's syndrome simulating malar flushing by food allergy

OBJETIVO: Relatar um caso de síndrome de Frey em lactente, cujo eritema malar foi inicialmente associado à alergia alimentar. DESCRIÇÃO DO CASO: Lactente de um ano de idade, encaminhado ao ambulatório de alergia alimentar com eritema malar unilateral, localizado na área de distribuição do nervo auriculotemporal, após a ingestão de frutas e legumes. Nesta época, o paciente encontrava-se em dieta de restrição destes alimentos devido ao diagnóstico clínico de alergia alimentar. O paciente apresentava história de parto vaginal e tocotraumatismo. COMENTÁRIOS: O diagnóstico da síndrome de Frey (síndrome auriculotemporal ou de sudorese gustativa) foi estabelecido com base nas características clínicas do eritema malar desencadeado após a ingestão de alimentos e exclusão do diagnóstico de alergia alimentar. Nestes pacientes, o dano ao nervo auriculotemporal decorre, em geral, de tocotraumatismo, com regeneração alterada das fibras nervosas, resultando no eritema malar com a estimulação gustativa. Este caso ressalta a necessidade do diagnóstico correto da alergia alimentar, de tal modo que não sejam impostas dietas restritivas desnecessárias ao paciente. Em pacientes com eritema malar na trajetória do nervo auriculotemporal após ingestão de alimentos, a possibilidade da síndrome de Frey deve ser considerada.

OBJECTIVE: To report a case of Frey syndrome in a child, whose malar flushing has been initially associated with food allergy. CASE DESCRIPTION: One year-old child referred to the food allergy out-patient clinic. The patient has been presenting unilateral facial flushing localized in the auriculotemporal nerve pathway after the ingestion of fruits and vegetables. At this time, these foods were excluded from patient's diet due to the clinical diagnosis of food allergy. The child was born by vaginal delivery and had obstetrical trauma. COMMENTS: The diagnosis of Frey syndrome (auriculotemporal syndrome or gustatory sweating) was established considering the clinical characteristic of facial flushing triggered after ingestion of foods and the exclusion of food allergy diagnosis. The damage to the auriculotemporal nerve caused by obstetrical trauma may misdirect the regeneration of the nerve fibers that results in facial flushing with gustatory stimulation. The present case points out to the importance of appropriate differential diagnosis of food allergy in order to avoid unnecessary restrictive diets. In patients with malar flushing in the auriculotemporal nerve pathway after food ingestion the possibility of Frey syndrome should be considered.

Prevalência da Síndrome de Frey após parotidectomia parcial / Frey syndrome prevalence after partial parotidectomy

INTRODUÇÃO: síndrome de Frey é uma seqüela observada após parotidectomia com incidência que varia muito na literatura. O diagnóstico é avaliado pela presença da tríade clássica - sudorese, calor e hiperemia na face, durante a alimentação - e documentado pelo teste com amido e iodo de Minor. OBJETIVO: Avaliar a incidência desta síndrome nos pacientes submetidos à parotidectomia parcial, no Centro de Otorrinolaringologia de Limeira, no período de 1994-2004 e correlacioná-la com os achados clínicos e com a técnica cirúrgica utilizada. MATERIAL E MÉTODO: Quatorze pacientes foram submetidos à parotidectomia parcial com rotação de retalho pediculado do músculo esternocleidomastóideo e responderam a questionário e a seguir foi realizado o teste do iodo, classificando-se os pacientes em positivos e negativos para o teste em um estudo clínico retrospectivo. RESULTADO: Nesta casuística, observamos que 21 por cento dos pacientes após parotidectomia parcial apresentaram positividade para o teste, sendo os mesmos pacientes que apresentaram queixas clínicas ao responderem o questionário. CONCLUSÃO: Somente os pacientes que apresentaram sintomatologia clínica tiveram positividade no teste do iodo, e a técnica cirúrgica empregada foi eficiente no tratamento da patologia da glândula, pois apresentou baixa incidência de acordo com a literatura pesquisada.

INTRODUCTION: Frey syndrome is a sequela observed after parotidectomy and the reported incidence varies enormously in the literature. Diagnosis is evaluated by presence of the classic triad of gustatory sweating, heating and flushing while feeding and documented by Minor starch-iodine test. AIM: to evaluate the incidence of this syndrome in patients submitted to partial parotidectomy at Centro Otorrinolaringológico de Limeira, from 1994 to 2004, including presence of signs and symptoms and the surgical technique. MATERIAL AND METHOD: fourteen patients undergoing partial parotidectomy with sternocleidomastoid muscle flap answered a questionnaire and were classified as positive or negative by Minor starch-iodine test in a clinical retrospective study. RESULTS: 21 percent of the patients presented symptoms and positive iodine test. CONCLUSION: only the patients presenting clinical symptoms had a positive test and the adopted surgical technique was efficient due to low incidence of the syndrome.

The role of SMAS flap in preventing Frey's syndrome following standard superficial parotidectomy.

Between 1992 and 2002, 46 patients who underwent standard superficial parotidectomy with a superficial muscoloaponeurotic system (SMAS) preservation technique were included in a retrospective study. Twenty-six patients were evaluated by questionnaire for subjective symptoms of gustatory sweating and flushing as well as satisfaction with the aesthetic appearance of their cheek. Six of twenty-six patients (23.1%) complained of symptoms of Frey's syndrome. Seven of twenty-six patients (26.9%) demonstrated a positive Minor's starch iodine test. By this technique the incidence of Frey's syndrome is substantially reduced from 48% by subjective review and 72% by objective measurement reported in the previous study by the same group of surgeons without using the SMAS preservation technique. This study supports the role of the SMAS flap in preventing Frey's syndrome following standard superficial parotidectomy.